Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.L790F
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RET

NM_020975.6:p.L790F

Associated Papers

RET germline mutations drive tumorigenesis but not tumor aggressiveness in MEN 2.

Machens A et al.

Endocrine, 2026

Calcitonin Thresholds for Prediction of Medullary Thyroid Carcinoma and its Clinical Response in MEN2A Gene Carriers.

Prete A et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

Multi-center multi-omics integration predicts individualized prognosis in medullary thyroid carcinoma.

Zhou Y et al.

Nature Communications, 2026

41535264 (PubMed )
Supplement: 41467_2025_67533_MOESM3_ESM.xlsx › Sheet1

Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.

Stanescu LS et al.

Cancers, 2025

RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.

Ricciardi Tenore C et al.

Genes, 2025

41465145 (PubMed )
Supplement: genes-16-01472-s001.zip › genes-3934011-supplementary.pdf

CDKN2A homozygous deletions and TSC2 somatic mutations in metastatic pancreatic neuroendocrine tumors.

Jesus TT et al.

Npj Precision Oncology, 2025

41350422 (PubMed )
Supplement: 41698_2025_1210_MOESM1_ESM.pdf

Real-world efficacy and safety of selpercatinib in RET-mutant medullary thyroid cancer at a Tertiary Referral Center.

Machlah YM et al.

European Journal of Endocrinology, 2025

Geospatial inheritance across the breath of the RET mutational landscape of multiple endocrine neoplasia 2A.

Machens A et al.

Endocrine, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Four decades of the RET gene: From discovery to tumor-agnostic therapy.

Takahashi M

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

Discovery of APS03118, a Potent and Selective Next-Generation RET Inhibitor with a Novel Kinase Hinge Scaffold.

Zhong J et al.

Journal of Medicinal Chemistry, 2025

Approach to the Patient: Hereditary Medullary Thyroid Carcinoma.

Shariq OA et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Targeting RET in medullary thyroid cancer.

Newbold K et al.

Endocrine-related Cancer, 2025

Incidence and distribution of neck node metastases in hereditary vs. sporadic medullary thyroid cancer at basal calcitonin serum levels ≤100 pg/ml: 30-year experience.

Machens A et al.

European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology, 2025

Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.

West CE et al.

Jama Network Open, 2025

Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing.

Srivastava A et al.

European Journal of Endocrinology, 2025

An Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2.

Gheorghe AM et al.

Diseases (basel, Switzerland), 2025

Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.

Frank-Raue K et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2025

Surgical Treatment of Medullary Thyroid Cancer.

Machens A et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2025

Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?

Hanna EM et al.

Plos One, 2025

Molecular profiling of sporadic medullary thyroid carcinomas - a next-generation sequencing-based study.

Altinay S et al.

Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2025

Fundamentals and recent advances in the evaluation and management of medullary thyroid carcinoma.

Gigliotti BJ et al.

Molecular and Cellular Endocrinology, 2024

Oncological features of sporadic vs. hereditary pediatric medullary thyroid cancer.

Machens A et al.

Endocrine, 2024

CCDC6-RET fusion protein regulates Ras/MAPK signaling through the fusion- GRB2-SHC1 signal niche.

Qiu T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

RET kinase inhibitors for the treatment of RET-altered thyroid cancers: Current knowledge and future directions.

Hamidi S et al.

Annales D'endocrinologie, 2024

[Precision medicine in endocrinology exemplified by medullary thyroid cancer].

Brandenburg T et al.

Innere Medizin (heidelberg, Germany), 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5

Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict?

Binter T et al.

Cancers, 2024

Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results.

Machens A et al.

Current Opinion in Oncology, 2024

Pralsetinib in Patients with Advanced/Metastatic Rearranged During Transfection (RET)-Altered Thyroid Cancer: Updated Efficacy and Safety Data from the ARROW Study.

Subbiah V et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

Unveiling new chapters in medullary thyroid carcinoma therapy: advances in molecular genetics and targeted treatment strategies.

Huai JX et al.

Frontiers in Endocrinology, 2024

A 4-Year-Old Boy with an Accidentally Detected Mutation in the RET Proto-Oncogene and Mutation in the Gene Encoding the Ryanodine Receptor1 (RyR1)-Case Report.

Mierzwa M et al.

Children (basel, Switzerland), 2023

Letter to the Editor: The Somatic RET M918T Variant May Modify the Natural History of Germline RET L790F MEN2-Related Medullary Thyroid Carcinoma.

Sahakian N et al.

Thyroid : Official Journal of the American Thyroid Association, 2023

Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET.

Sahakian N et al.

Cancers, 2023

Medullary Thyroid Cancer: Updates and Challenges.

Gild ML et al.

Endocrine Reviews, 2023

The Changing Face of Multiple Endocrine Neoplasia 2A: From Symptom-Based to Preventative Medicine.

Machens A et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

From Circulating Tumor Cells to Mirna: New Challenges in the Diagnosis and Prognosis of Medullary Thyroid Cancer.

Ricci C et al.

Cancers, 2023

Personalized Medicine in Medullary Thyroid Carcinoma: A Broad Review of Emerging Treatments.

Martins RS et al.

Journal of Personalized Medicine, 2023

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.

Neocleous V et al.

Life (basel, Switzerland), 2023

[Hereditary medullary thyroid cancer].

Fendrich V et al.

Chirurgie (heidelberg, Germany), 2023

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study

Holm M et al.

Cancers, 2023

Temporal trends in referrals of RET gene carriers for neck surgery to a tertiary surgical center in the era of international management guidelines.

Machens A et al.

Endocrine, 2023

Progress and challenges in RET-targeted cancer therapy.

Hu X et al.

Frontiers of Medicine, 2023

Clinical significance and interrelations of PD-L1 expression, Ki-67 index, and molecular alterations in sporadic medullary thyroid carcinoma from a Chinese population.

Bai Y et al.

Virchows Archiv : an International Journal of Pathology, 2022

Integrated proteogenomic characterization of medullary thyroid carcinoma.

Shi X et al.

Cell Discovery, 2022

36344509 (PubMed )
Supplement: 41421_2022_479_MOESM4_ESM.xlsx › Germline_RET_mutations
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."